Scoliosis and Vertebral Anomalies: Additional Abnormal Phenotypes Associated with Chromosome 16p11.2 Rearrangement
Scoliosis and Vertebral Anomalies: Additional Abnormal Phenotypes Associated with Chromosome 16p11.2 Rearrangement
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DOI：
10.1002/ajmg.a.36401
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发表时间：
2014-05-01
影响因子：
2
通讯作者：
Shinawi, Marwan
中科院分区：
文献类型：
--
作者：
Al-Kateb, Hussam;Khanna, Geetika;Shinawi, Marwan
据估计，典型的染色体16 p11.2重排发生频率约为临床测试所有样本的0.6%，并已被确定为自闭症谱系障碍、发育迟缓、行为异常和癫痫发作的主要原因。对这些重排的患者进行仔细检查，发现与头部大小异常、肥胖、畸形和先天性异常有关。在这份报告中，我们扩展了表型异常的列表，包括脊柱侧凸和椎骨异常。我们对10例新患者的表型和放射学数据进行了详细描述，其中9例16p11.2缺失，1例在坐标chr16：29，366，195和30，306，956（hg19）内重复，最小大小为555kb。我们讨论了我们的患者的表型和放射学表现，并回顾了5例先前报道的16p11.2重排和类似骨骼异常的患者。我们的数据表明，复发性16p11.2重排的患者有脊柱侧凸和椎体畸形的发病率增加。然而，需要更多的研究来证实这一观察结果，并确定这些异常的发生率。我们讨论了我们的研究结果对16p11.2重排患者的诊断，监测和遗传咨询的潜在影响。(c)2014 Wiley Periodicals，Inc.
The typical chromosome 16p11.2 rearrangements are estimated to occur at a frequency of approximately 0.6% of all samples tested clinically and have been identified as a major cause of autism spectrum disorders, developmental delay, behavioral abnormalities, and seizures. Careful examination of patients with these rearrangements revealed association with abnormal head size, obesity, dysmorphism, and congenital abnormalities. In this report, we extend this list of phenotypic abnormalities to include scoliosis and vertebral anomalies. We present detailed characterization of phenotypic and radiological data of 10 new patients, nine with the 16p11.2 deletion and one with the duplication within the coordinates chr16:29,366,195 and 30,306,956 (hg19) with a minimal size of 555kb. We discuss the phenotypical and radiological findings in our patients and review 5 previously reported patients with 16p11.2 rearrangement and similar skeletal abnormalities. Our data suggest that patients with the recurrent 16p11.2 rearrangement have increased incidence of scoliosis and vertebral anomalies. However, additional studies are required to confirm this observation and to establish the incidence of these anomalies. We discuss the potential implications of our findings on the diagnosis, surveillance and genetic counseling of patients with 16p11.2 rearrangement. (c) 2014 Wiley Periodicals, Inc.